Comprehensive Pediatric and Developmental Delay Microarray Panel: Accurate Diagnosis and Treatment

Our lab specializes in providing developmental delay microarray testing services to diagnose genetic causes of developmental delays in children and adults. This cutting-edge technology allows us to analyze the entire genome and identify small changes in the DNA that could be responsible for developmental delays. With quick and accurate results, our testing can help healthcare professionals and families make informed decisions about the best course of treatment and care for their child or family member. Our team of experts is dedicated to providing high-quality testing and exceptional customer service, ensuring that every patient receives the best possible care.

Microarray testing allows for a high-resolution look into a person’s genome and has a higher sensitivity than conventional karyotyping for identifying clinically significant chromosomal abnormalities. This type of test can detect singular genetic changes that can cause health problems in children with a wide spectrum of severity.

Examples of disorders that can be detected with microarray include developmental delays, intellectual disability, and autism spectrum disorders.

Specimen requirements: One of the following - (cheek) buccal swab provided by Genesys Diagnostics (OraCollect Dx; DNA Genotek Buccal Swab), whole blood sample (~5 mL) in a lavender top (K2EDTA) collection tube, pure DNA (minimum of 50 ng/µL), amniotic fluid, or chorionic villus sampling (CVS).

Developmental Delay Microarray Requisition

Microarray Sample Report

Buccal Swab Instructions

Clinical features that may indicate the need for testing:

• Developmental delay or intellectual disability

• Diagnosed or suspected Autism spectrum disorder

• Congenital anomalies or birth defects, such as heart defects, cleft lip or palate, or limb abnormalities

• Unexplained seizures or epilepsy

• Unexplained growth delays or failure to thrive

• Multiple miscarriages or stillbirths Infertility or reproductive problems

• Family history of genetic disorders

The best protection is early detection

Limitations: The chromosomal microarray array used at Genesys Diagnostics (Illumina Infinium CytoSNP-850K) is used for the sole purpose of identifying genomic chromosomal abnormalities. This microarray will detect aneuploidy, copy number gains, copy number losses, and regions of copy number neutral absence or loss of heterozygosity (LOH) for the loci represented on the microarray. Analysis is limited to detection of copy number changes that include at least 25 probes and regions of LOH that include at least 500 probes. Deletions of at least 500 Kb and duplications of at least 1000 kb with at least one OMIM disease annotated gene are reported. The criteria for reporting uniparental disomy (UPD) include the finding of a single chromosome with an LOH of greater than 15Mb. The criteria for reporting of identity by decent (Consanguinity) include the finding of multiple chromosomes with LOH>3Mb and at least one LOH>10Mb. Abnormalities not meeting above mentioned thresholds may not be reported. Benign or likely benign copy number variants are not reported. This test will not detect copy number variation in regions not covered on the microarray. This test will not detect balanced alterations (e.g. reciprocal translocations, Robertsonian translocations, inversions, balanced inversions), methylation anomalies and other epigenetic events, or point mutations. Rare diagnostic errors can arise from incorrectly assigned specimens (e.g. sample mix up), or family relationships (e.g. nonpaternity). Additionally, the classification and interpretation of variants reported reflects the current state of scientific understanding at the time a report is issued. It is possible that a particular genetic abnormality may not be recognized as the underlying cause of the genetic disorder due to incomplete scientific knowledge about the function of all genes in the human genome and the impact of variants in those genes.